Linked Data
ClinVar Variation Id:
436758
dbSNP Id:
rs199882086
ExAC:
5:33984603 T / C
gnomAD v2:
5-33984603-T-C
gnomAD v3:
5-33984498-T-C
gnomAD v4:
5-33984498-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984498T>C , CM000667.2:g.33984498T>C | GRCh38 |
| NC_000005.9:g.33984603T>C , CM000667.1:g.33984603T>C | GRCh37 |
| NC_000005.8:g.34020360T>C | NCBI36 |
| NG_011691.2:g.5178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.86A>G MANE Select | ENSP00000296589.4:p.Lys29Arg | |
| ENST00000296589.8:c.86A>G | ENSP00000296589.4:p.Lys29Arg | |
| ENST00000382102.7:c.86A>G | ENSP00000371534.3:p.Lys29Arg | |
| ENST00000505056.1:n.65A>G | ||
| ENST00000509381.1:c.86A>G | ENSP00000421100.1:p.Lys29Arg | |
| NM_001012509.3:c.86A>G | NP_001012527.1:p.Lys29Arg | |
| NM_001297417.2:c.86A>G | NP_001284346.2:p.Lys29Arg | |
| NM_016180.4:c.86A>G | NP_057264.3:p.Lys29Arg | |
| XM_011514052.1:c.86A>G | XP_011512354.1:p.Lys29Arg | |
| XR_925620.1:n.647A>G | ||
| NM_016180.5:c.86A>G MANE Select | NP_057264.4:p.Lys29Arg | |
| NM_001012509.4:c.86A>G | NP_001012527.2:p.Lys29Arg | |
| NM_001297417.3:c.86A>G | NP_001284346.2:p.Lys29Arg | |
| NM_001297417.4:c.86A>G | NP_001284346.2:p.Lys29Arg |